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7. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). Zanni G; Barresi S; Cohen R; Specchio N; Basel-Vanagaite L; Valente EM; Shuper A; Vigevano F; Bertini E Epilepsy Res; 2014 May; 108(4):811-5. PubMed ID: 24630051 [TBL] [Abstract][Full Text] [Related]
8. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. Sikora J; Leddy J; Gulinello M; Walkley SU Dis Model Mech; 2016 Jan; 9(1):13-23. PubMed ID: 26515654 [TBL] [Abstract][Full Text] [Related]
9. Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation. Deane EC; Ilie AE; Sizdahkhani S; Das Gupta M; Orlowski J; McKinney RA J Neurosci; 2013 Jan; 33(2):595-610. PubMed ID: 23303939 [TBL] [Abstract][Full Text] [Related]
10. Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH. Prasad H; Rao R Proc Natl Acad Sci U S A; 2018 Jul; 115(28):E6640-E6649. PubMed ID: 29946028 [TBL] [Abstract][Full Text] [Related]
11. Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Roxrud I; Raiborg C; Gilfillan GD; Strømme P; Stenmark H Exp Cell Res; 2009 Oct; 315(17):3014-27. PubMed ID: 19619532 [TBL] [Abstract][Full Text] [Related]
12. Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. Kerner-Rossi M; Gulinello M; Walkley S; Dobrenis K Neurobiol Learn Mem; 2019 Nov; 165():106867. PubMed ID: 29772390 [TBL] [Abstract][Full Text] [Related]
13. A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Khayat W; Hackett A; Shaw M; Ilie A; Dudding-Byth T; Kalscheuer VM; Christie L; Corbett MA; Juusola J; Friend KL; Kirmse BM; Gecz J; Field M; Orlowski J Hum Mol Genet; 2019 Feb; 28(4):598-614. PubMed ID: 30335141 [TBL] [Abstract][Full Text] [Related]
14. Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. Xinhan L; Matsushita M; Numaza M; Taguchi A; Mitsui K; Kanazawa H Am J Physiol Cell Physiol; 2011 Dec; 301(6):C1431-44. PubMed ID: 21881004 [TBL] [Abstract][Full Text] [Related]
15. Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons. Fernandez MA; Bah F; Ma L; Lee Y; Schmidt M; Welch E; Morrow EM; Young-Pearse TL Stem Cell Reports; 2022 Sep; 17(9):2111-2126. PubMed ID: 36055242 [TBL] [Abstract][Full Text] [Related]
16. Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome. Petitjean H; Fatima T; Mouchbahani-Constance S; Davidova A; Ferland CE; Orlowski J; Sharif-Naeini R Pain; 2020 Nov; 161(11):2619-2628. PubMed ID: 32569089 [TBL] [Abstract][Full Text] [Related]
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19. Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain. Lee Y; Miller MR; Fernandez MA; Berg EL; Prada AM; Ouyang Q; Schmidt M; Silverman JL; Young-Pearse TL; Morrow EM Brain; 2022 Sep; 145(9):3187-3202. PubMed ID: 34928329 [TBL] [Abstract][Full Text] [Related]
20. Ligand-dependent complex formation between the Angiotensin II receptor subtype AT2 and Na+/H+ exchanger NHE6 in mammalian cells. Pulakat L; Cooper S; Knowle D; Mandavia C; Bruhl S; Hetrick M; Gavini N Peptides; 2005 May; 26(5):863-73. PubMed ID: 15808917 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]